Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001055201 | SCV001219578 | pathogenic | Bloom syndrome | 2023-02-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp934*) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 850920). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV001055201 | SCV002811024 | likely pathogenic | Bloom syndrome | 2022-05-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003363083 | SCV004072506 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-13 | criteria provided, single submitter | clinical testing | The p.W934* pathogenic mutation (also known as c.2801G>A), located in coding exon 13 of the BLM gene, results from a G to A substitution at nucleotide position 2801. This changes the amino acid from a tryptophan to a stop codon within coding exon 13. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |